Incidental Mutation 'IGL01600:Glt28d2'
ID |
92137 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Glt28d2
|
Ensembl Gene |
ENSMUSG00000031286 |
Gene Name |
glycosyltransferase 28 domain containing 2 |
Synonyms |
4732486J07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
IGL01600
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
85777156-85794823 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 85779290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 61
(Y61C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033643
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033643]
[ENSMUST00000154148]
|
AlphaFold |
Q8BML3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033643
AA Change: Y61C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033643 Gene: ENSMUSG00000031286 AA Change: Y61C
Domain | Start | End | E-Value | Type |
Pfam:Glyco_tran_28_C
|
3 |
159 |
2.6e-31 |
PFAM |
Pfam:Glyco_trans_1_3
|
4 |
137 |
5.8e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125216
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146862
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154148
|
SMART Domains |
Protein: ENSMUSP00000116393 Gene: ENSMUSG00000102805
Domain | Start | End | E-Value | Type |
Arfaptin
|
1 |
227 |
7.15e-121 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 14 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp7b |
C |
A |
8: 22,517,541 (GRCm39) |
|
probably null |
Het |
Ccr7 |
A |
G |
11: 99,035,971 (GRCm39) |
V317A |
probably benign |
Het |
Dna2 |
T |
A |
10: 62,786,585 (GRCm39) |
I111K |
probably damaging |
Het |
Egflam |
A |
G |
15: 7,249,245 (GRCm39) |
S858P |
probably damaging |
Het |
Kbtbd12 |
C |
T |
6: 88,595,540 (GRCm39) |
A97T |
probably benign |
Het |
Myh4 |
A |
G |
11: 67,151,015 (GRCm39) |
E1890G |
possibly damaging |
Het |
Notch3 |
C |
A |
17: 32,363,472 (GRCm39) |
G1197V |
probably damaging |
Het |
Or4c10b |
A |
T |
2: 89,712,006 (GRCm39) |
M279L |
probably benign |
Het |
Pcdh10 |
A |
T |
3: 45,333,922 (GRCm39) |
I79L |
probably damaging |
Het |
Runx1t1 |
T |
A |
4: 13,841,871 (GRCm39) |
V181D |
probably damaging |
Het |
Snx25 |
A |
T |
8: 46,569,347 (GRCm39) |
D183E |
probably benign |
Het |
Srsf11 |
G |
A |
3: 157,725,079 (GRCm39) |
|
probably benign |
Het |
Tox |
A |
G |
4: 6,697,585 (GRCm39) |
V406A |
probably damaging |
Het |
Vmn2r68 |
T |
A |
7: 84,871,468 (GRCm39) |
H605L |
probably benign |
Het |
|
Other mutations in Glt28d2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02662:Glt28d2
|
APN |
3 |
85,779,423 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03235:Glt28d2
|
APN |
3 |
85,779,109 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0579:Glt28d2
|
UTSW |
3 |
85,779,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R4326:Glt28d2
|
UTSW |
3 |
85,779,393 (GRCm39) |
nonsense |
probably null |
|
R6170:Glt28d2
|
UTSW |
3 |
85,779,248 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6798:Glt28d2
|
UTSW |
3 |
85,779,296 (GRCm39) |
missense |
probably benign |
0.00 |
R8853:Glt28d2
|
UTSW |
3 |
85,779,087 (GRCm39) |
missense |
probably benign |
|
R8890:Glt28d2
|
UTSW |
3 |
85,779,359 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9632:Glt28d2
|
UTSW |
3 |
85,779,059 (GRCm39) |
missense |
probably benign |
0.13 |
R9710:Glt28d2
|
UTSW |
3 |
85,779,059 (GRCm39) |
missense |
probably benign |
0.13 |
|
Posted On |
2013-12-09 |